Department of Histology, Embryology and Applied Biology, Centre of Molecular Genetics, University of Bologna, Bologna, Italy.
Int J Immunopathol Pharmacol. 2011 Apr-Jun;24(2 Suppl):7-10. doi: 10.1177/03946320110240S202.
Unraveling of factors involved in multifactorial diseases is a great challenge. Different approaches can be contemplate and applied to a variety of congenital malformations. In the present investigation TFAP2A has been considered a good candidate gene for nonsyndromic cleft lip with or without cleft palate (NSCLP) aetiology, basing on a sum of considerations. TFAP2A has been seen involved in orofacial development in mice; it is located in the NSCLP candidate region 6p24; it codes for a transcription factor which regulates expression of IRF6, a gene implied in NSCLP; finally, it is embroiled in the branchiooculofacial syndrome, that includes clefting as feature. A family based association analysis was performed with a sample study of 405 NSCLP triads. Evidence of association was obtained with both single marker and haplotype analyses, thus providing a support for TFAP2A in NSCLP aetiology.
解析多因素疾病相关因素是一个巨大的挑战。不同的方法可以被考虑并应用于各种先天性畸形。在本研究中，TFAP2A 被认为是一种非综合征性唇裂伴或不伴腭裂（NSCLP）病因的候选基因，这是基于一系列考虑。在小鼠中，TFAP2A 被认为参与了口腔面部发育；它位于 NSCLP 候选区域 6p24；它编码一种转录因子，调节 NSCLP 相关基因 IRF6 的表达；最后，它与包含裂隙特征的Branchiooculofacial 综合征有关。对 405 个 NSCLP 三联体进行了基于家系的关联分析。单标记和单体型分析均获得了关联证据，从而为 TFAP2A 在 NSCLP 发病机制中的作用提供了支持。
